ICK

intestinal cell kinase
OMIM: 612325, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Amber ICK in Hydrocephalus


Version 2.114
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • watchlist
  • new-gene-name

Green ICK in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name

No list ICK in Limb disorders


Version 2.43
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    • curated_removed

    Green ICK in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.104
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Green ICK in Unexplained paediatric onset end-stage renal disease


    Version 1.18
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Amber ICK in Fetal anomalies


    Version 1.679
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • for-review
    • new-gene-name

    No list ICK in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.14
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    • curated_removed

    Green ICK in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.32
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Green ICK in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.142

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Green ICK in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.15
    Latest signed off version: v1.5 (4 Mar 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Green ICK in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.41
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name
    • watchlist
    • for-review

    Green ICK in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.10
    Latest signed off version: v1.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Literature
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Red ICK in Childhood onset dystonia or chorea or related movement disorder


    Version 1.131
    Latest signed off version: v1.58 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name

    Green ICK in Severe Paediatric Disorders


    Version 1.78

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Epilepsy, juvenile myoclonic, susceptibility to, 10}, OMIM:617924
    • Endocrine-cerebroosteodysplasia, OMIM:612651
    • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
    Tags
    • new-gene-name